E48* (p.Glu48Ter) variant of SCN4A (Nav1.4)
E48* (p.Glu48Ter) in SCN4A (Nav1.4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- ExAC rs769361537
- gnomAD rs769361537
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available